Variant report

Variant	nsv1007307
Chromosome Location	chr2:86974563-87055214
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1280)
CpG islands
(count:2995)
Chromatin interactive
region (count:39)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:9)

(count:1280 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:87035534-87035903	K562	blood:	n/a	n/a
2	ARID3A	chr2:87035044-87036047	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:86975391-86975453	K562	blood:	n/a	n/a
4	ATF1	chr2:87008495-87009694	K562	blood:	n/a	n/a
5	ATF1	chr2:87046445-87047301	K562	blood:	n/a	n/a
6	ATF1	chr2:86991865-86992162	K562	blood:	n/a	n/a
7	ATF1	chr2:86975197-86975467	K562	blood:	n/a	n/a
8	ATF2	chr2:87011061-87011568	GM12878	blood:	n/a	n/a
9	ATF2	chr2:87011024-87011666	GM12878	blood:	n/a	n/a
10	ATF3	chr2:87035386-87035875	A549	lung:	n/a	n/a
11	ATF3	chr2:87035407-87035871	A549	lung:	n/a	n/a
12	ATF3	chr2:86975156-86975457	K562	blood:	n/a	n/a
13	BACH1	chr2:87035036-87035962	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr2:87017296-87017709	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr2:87013427-87013719	K562	blood:	n/a	n/a
16	BATF	chr2:87011135-87011439	GM12878	blood:	n/a	n/a
17	BATF	chr2:87011070-87011355	GM12878	blood:	n/a	n/a
18	BCLAF1	chr2:87035400-87035852	GM12878	blood:	n/a	chr2:87035834-87035847
19	BCLAF1	chr2:87035432-87035863	GM12878	blood:	n/a	chr2:87035834-87035847
20	BCLAF1	chr2:87011028-87011445	GM12878	blood:	n/a	n/a
21	BHLHE40	chr2:87034191-87035985	HepG2	liver:	n/a	n/a
22	BHLHE40	chr2:87007042-87007239	K562	blood:	n/a	n/a
23	BHLHE40	chr2:87051039-87051340	K562	blood:	n/a	n/a
24	BHLHE40	chr2:87012885-87013701	K562	blood:	n/a	n/a
25	BHLHE40	chr2:87005690-87005862	K562	blood:	n/a	n/a
26	BHLHE40	chr2:87035439-87036253	K562	blood:	n/a	n/a
27	BHLHE40	chr2:87035462-87036013	GM12878	blood:	n/a	n/a
28	BRCA1	chr2:87028182-87028284	GM12878	blood:	n/a	n/a
29	BRCA1	chr2:87020513-87021352	HepG2	liver:	n/a	n/a
30	BRCA1	chr2:87035437-87036065	Hela-S3	cervix:	n/a	n/a
31	BRCA1	chr2:87034355-87036171	HepG2	liver:	n/a	n/a
32	BRCA1	chr2:87052250-87052793	HepG2	liver:	n/a	n/a
33	BRCA1	chr2:87003606-87004881	HepG2	liver:	n/a	n/a
34	BRCA1	chr2:87048502-87048716	GM12878	blood:	n/a	n/a
35	CBX3	chr2:86977299-86977808	K562	blood:	n/a	n/a
36	CBX3	chr2:86977325-86977792	HCT-116	colon:	n/a	n/a
37	CBX3	chr2:87035466-87035877	K562	blood:	n/a	n/a
38	CBX3	chr2:86977303-86977904	HCT-116	colon:	n/a	n/a
39	CBX3	chr2:86977251-86977767	K562	blood:	n/a	n/a
40	CCNT2	chr2:87016779-87017699	K562	blood:	n/a	chr2:87016925-87016934
41	CEBPB	chr2:87020232-87020579	HepG2	liver:	n/a	chr2:87020387-87020398
42	CEBPB	chr2:87034289-87034930	MCF-7	breast:	n/a	chr2:87034394-87034405
43	CEBPB	chr2:87020210-87020551	K562	blood:	n/a	chr2:87020387-87020398
44	CEBPB	chr2:86975164-86975481	A549	lung:	n/a	n/a
45	CEBPB	chr2:86974938-86975694	HCT-116	colon:	n/a	n/a
46	CEBPB	chr2:86980046-86980285	HepG2	liver:	n/a	n/a
47	CEBPB	chr2:86975135-86975531	K562	blood:	n/a	n/a
48	CEBPB	chr2:86975099-86975527	K562	blood:	n/a	n/a
49	CEBPB	chr2:87020204-87020580	A549	lung:	n/a	chr2:87020387-87020398
50	CEBPB	chr2:86975142-86975515	MCF-7	breast:	n/a	n/a

(count:2995 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:87020377-87020427	HCM	heart:	n/a
2	chr2:87020377-87020427	HEK293	kidney:	embryo
3	chr2:87018382-87018432	AG09319	gingival:	n/a
4	chr2:87036948-87036998	HUVEC	blood vessel:	n/a
5	chr2:87035698-87035748	SK-N-MC	brain:	n/a
6	chr2:87035716-87035766	HepG2	liver:	n/a
7	chr2:87020377-87020427	HCM	heart:	n/a
8	chr2:87020377-87020427	HEK293	kidney:	embryo
9	chr2:87018382-87018432	AG09319	gingival:	n/a
10	chr2:87036948-87036998	HUVEC	blood vessel:	n/a
11	chr2:87035698-87035748	SK-N-MC	brain:	n/a
12	chr2:87035716-87035766	HepG2	liver:	n/a
13	chr2:87016259-87016309	SK-N-MC	brain:	n/a
14	chr2:87034800-87034850	SK-N-SH	brain:	n/a
15	chr2:87036948-87036998	NHBE	bronchial:	n/a
16	chr2:87016720-87016770	SK-N-SH	brain:	n/a
17	chr2:87018104-87018154	K562	blood:	n/a
18	chr2:87019846-87019896	NT2-D1	testis:	n/a
19	chr2:87036948-87036998	AG09319	gingival:	n/a
20	chr2:87035710-87035760	HCF	heart:	n/a
21	chr2:87037000-87037050	AG09309	skin:	n/a
22	chr2:87034200-87034250	U87	brain:	n/a
23	chr2:87017419-87017469	HRE	kidney:	n/a
24	chr2:87017689-87017739	NHBE	bronchial:	n/a
25	chr2:87035278-87035328	LNCaP	prostate:	n/a
26	chr2:87016129-87016179	Hela-S3	cervix:	n/a
27	chr2:87035278-87035328	Caco-2	colon:	n/a
28	chr2:87020377-87020427	PFSK-1	brain:	n/a
29	chr2:87052595-87052645	K562	blood:	n/a
30	chr2:87035982-87036032	HL-60	blood:	n/a
31	chr2:87035982-87036032	HPAEpiC	pulmonary alveolar:	n/a
32	chr2:87036948-87036998	K562	blood:	n/a
33	chr2:87018382-87018432	PrEC	prostate:	n/a
34	chr2:87018958-87019008	T-47D	breast:	n/a
35	chr2:87035688-87035738	A549	lung:	n/a
36	chr2:87034663-87034713	GM12891	blood:	n/a
37	chr2:87035278-87035328	A549	lung:	n/a
38	chr2:87035716-87035766	Jurkat	blood:	n/a
39	chr2:87042671-87042721	U87	brain:	n/a
40	chr2:87037038-87037088	AoSMC	blood vessel:	n/a
41	chr2:87035758-87035808	Hela-S3	cervix:	n/a
42	chr2:87034663-87034713	SK-N-SH	brain:	n/a
43	chr2:87035620-87035670	HCM	heart:	n/a
44	chr2:87017591-87017641	MCF10A-Er-Src	breast:	n/a
45	chr2:87019192-87019242	BE2_C	brain:	n/a
46	chr2:87037038-87037088	HUVEC	blood vessel:	n/a
47	chr2:87003351-87003401	NT2-D1	testis:	n/a
48	chr2:87016720-87016770	RPTEC	kidney:	n/a
49	chr2:87019192-87019242	HEEpiC	esophagus:	n/a
50	chr2:87018382-87018432	ECC-1	luminal epithelium:	n/a

(count:39 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:87027429..87029598-chr2:87032662..87035467,2	MCF-7	breast:
2	chr2:86976811..86978782-chr2:86981681..86983709,3	K562	blood:
3	chr2:86932548..86934420-chr2:86983184..86985125,2	MCF-7	breast:
4	chr2:87037113..87040779-chr2:87041789..87043828,3	MCF-7	breast:
5	chr2:87006827..87008386-chr2:87009565..87012245,2	K562	blood:
6	chr2:87053953..87055906-chr2:87062095..87066104,3	MCF-7	breast:
7	chr2:87006827..87008386-chr2:87009565..87012245,2	K562	blood:
8	chr2:87029729..87031828-chr2:87033631..87036000,2	K562	blood:
9	chr2:86666465..86668622-chr2:86979172..86981000,2	K562	blood:
10	chr2:86995678..86997239-chr2:87001923..87004036,2	K562	blood:
11	chr2:87046936..87049292-chr2:87052783..87055158,2	K562	blood:
12	chr2:87002968..87006528-chr2:87006846..87010010,3	K562	blood:
13	chr2:87002968..87006528-chr2:87006846..87010010,3	K562	blood:
14	chr2:86991045..86994213-chr2:86994492..86997547,4	K562	blood:
15	chr2:87010879..87013037-chr2:87016931..87018584,2	MCF-7	breast:
16	chr2:86976092..86977901-chr2:86986251..86989473,3	K562	blood:
17	chr2:86976092..86977901-chr2:86986251..86989473,3	K562	blood:
18	chr2:87030047..87032736-chr2:87033123..87034744,3	MCF-7	breast:
19	chr2:86976811..86978782-chr2:86981681..86983709,3	K562	blood:
20	chr2:86849445..86851190-chr2:87032691..87035125,2	MCF-7	breast:
21	chr2:87030047..87032736-chr2:87033123..87034744,3	MCF-7	breast:
22	chr2:86623288..86624016-chr2:87035607..87036117,2	K562	blood:
23	chr2:86972255..86973795-chr2:86976969..86979051,2	K562	blood:
24	chr2:86975250..86978690-chr2:86981648..86984537,4	K562	blood:
25	chr2:87016632..87018790-chr2:87032170..87034818,2	MCF-7	breast:
26	chr2:86850136..86852379-chr2:86973884..86976847,2	K562	blood:
27	chr2:87027429..87029598-chr2:87032662..87035467,2	MCF-7	breast:
28	chr2:86992690..86995505-chr2:86996197..86998560,2	MCF-7	breast:
29	chr2:86991626..86993002-chr2:87034779..87035758,6	MCF-7	breast:
30	chr2:87046936..87049292-chr2:87052783..87055158,2	K562	blood:
31	chr2:87004183..87006528-chr2:87007653..87009681,2	K562	blood:
32	chr2:87037113..87040779-chr2:87041789..87043828,3	MCF-7	breast:
33	chr2:86997290..86998210-chr2:87035221..87035730,2	MCF-7	breast:
34	chr2:87009642..87012504-chr2:87015685..87018446,2	MCF-7	breast:
35	chr2:86995678..86997239-chr2:87001923..87004036,2	K562	blood:
36	chr2:86991626..86993002-chr2:87034779..87035758,6	MCF-7	breast:
37	chr2:86986605..86989075-chr2:86997944..86999787,2	K562	blood:
38	chr2:87004183..87006528-chr2:87007653..87009681,2	K562	blood:
39	chr2:87035298..87037035-chr2:87037234..87038983,2	MCF-7	breast:

No data

(count:9 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	RMND5A	hsa-miR-128-3p	chr2:87001679-87001699
2	RMND5A	hsa-miR-125b-5p	chr2:87004984-87004990
3	RMND5A	hsa-miR-27a-3p	chr2:87002320-87002339
4	RMND5A	hsa-miR-21-5p	chr2:87000626-87000646
5	RMND5A	hsa-miR-21-5p	chr2:87000639-87000646
6	RMND5A	hsa-miR-23b-3p	chr2:87002901-87002921
7	RMND5A	hsa-miR-27a-3p	chr2:87001607-87001627
8	RMND5A	hsa-miR-27a-3p	chr2:87004202-87004222
9	RMND5A	hsa-miR-27a-3p	chr2:87001620-87001627

Variant related genes	Relation type
CD8A	TF binding region
RMND5A	TF binding region
CD8A	CpG island
RMND5A	CpG island
ENSG00000249884	chromatin interactions
ENSG00000153563	chromatin interactions
ENSG00000115548	chromatin interactions
ENSG00000239305	chromatin interactions
ENSG00000153561	chromatin interactions

Extended variants
information (count: 2859 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:2859 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367817790	chr2:86974563-86974564	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs372037904	chr2:86974635-86974636	Enhancers Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs62148507	chr2:86974689-86974690	Enhancers Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs567503720	chr2:86974728-86974729	Enhancers Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs529210045	chr2:86974753-86974754	Enhancers Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs146191578	chr2:86974755-86974756	Enhancers Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs189742980	chr2:86974804-86974805	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs539676603	chr2:86974805-86974806	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs34353387	chr2:86974834-86974835	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs569774232	chr2:86974864-86974865	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs536697320	chr2:86974871-86974872	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs148373189	chr2:86974879-86974880	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs369519586	chr2:86974881-86974882	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs181838214	chr2:86974937-86974938	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs374481472	chr2:86974938-86974939	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs141599160	chr2:86974951-86974952	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs150877840	chr2:86975006-86975007	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs577914139	chr2:86975055-86975056	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs79212595	chr2:86975059-86975060	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs6731890	chr2:86975165-86975166	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs150039173	chr2:86975220-86975221	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs184632764	chr2:86975223-86975224	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs189398561	chr2:86975230-86975231	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs528513376	chr2:86975304-86975305	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs546996056	chr2:86975333-86975334	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs566029849	chr2:86975358-86975359	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs533257621	chr2:86975389-86975390	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs545902318	chr2:86975539-86975540	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs551603280	chr2:86975600-86975601	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs370977439	chr2:86975633-86975634	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs569721298	chr2:86975675-86975676	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs181817016	chr2:86975686-86975687	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs79547044	chr2:86975708-86975709	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs567332046	chr2:86975730-86975731	Weak transcription ZNF genes & repeats Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs186503050	chr2:86975886-86975887	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs189661657	chr2:86975931-86975932	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs553492593	chr2:86975943-86975944	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs9309636	chr2:86975970-86975971	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs538920774	chr2:86975994-86975995	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs373940900	chr2:86976103-86976104	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs56704278	chr2:86976187-86976188	Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs575715218	chr2:86976206-86976207	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs9309637	chr2:86976239-86976240	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs370234752	chr2:86976292-86976293	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs147263896	chr2:86976293-86976294	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs116452736	chr2:86976299-86976300	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs116836182	chr2:86976306-86976307	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs9309638	chr2:86976348-86976349	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs140843215	chr2:86976357-86976358	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs563581724	chr2:86976414-86976415	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	18438408	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Breast cancer	20409316	CNVD
Breast cancer	21990379	CNVD
Astrocytoma	22246337	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	19812545	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:2680 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86949000-86979600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr2:86962200-86975400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:86962200-86977000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:86965200-86978800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:86966800-86977200	Weak transcription	Osteobl	bone
6	chr2:86968600-86974800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:86968600-86993000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:86968600-86997600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:86968800-86975000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr2:86968800-86977000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr2:86968800-86977000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr2:86968800-86978600	Weak transcription	Placenta	Placenta
13	chr2:86968800-86980400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:86969000-86974600	Weak transcription	NHEK	skin
15	chr2:86969200-86975000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:86969200-86977400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr2:86969200-86986400	Strong transcription	Fetal Thymus	thymus
18	chr2:86969200-86997800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:86969400-86979000	Weak transcription	Ovary	ovary
20	chr2:86969400-86984400	Weak transcription	Fetal Heart	heart
21	chr2:86969400-86997800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr2:86969600-86974600	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr2:86969600-86977200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr2:86969600-86995400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:86969600-86995400	Weak transcription	Esophagus	oesophagus
26	chr2:86969800-86975000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr2:86969800-86975000	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr2:86969800-86977200	Weak transcription	Fetal Kidney	kidney
29	chr2:86969800-86978600	Weak transcription	HSMM	muscle
30	chr2:86970000-86974800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr2:86970000-86974800	Weak transcription	HMEC	breast
32	chr2:86970000-86976000	Weak transcription	Hela-S3	cervix
33	chr2:86970000-86979800	Weak transcription	Colonic Mucosa	Colon
34	chr2:86970000-86980200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr2:86970000-87002000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr2:86970200-86974800	Strong transcription	Primary B cells from peripheral blood	blood
37	chr2:86970200-86974800	Strong transcription	Dnd41	blood
38	chr2:86970200-86976800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr2:86970400-86974600	Weak transcription	Colon Smooth Muscle	Colon
40	chr2:86970400-86975200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr2:86970400-86980600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr2:86970400-86995400	Weak transcription	Aorta	Aorta
43	chr2:86970800-86975000	Weak transcription	NH-A	brain
44	chr2:86971000-86974600	Strong transcription	Primary B cells from cord blood	blood
45	chr2:86971000-86975000	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr2:86971000-86975000	Weak transcription	Fetal Brain Male	brain
47	chr2:86971400-86974800	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr2:86971400-86976000	Weak transcription	Brain Germinal Matrix	brain
49	chr2:86971600-86976600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr2:86971600-86977000	Weak transcription	H1 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links